CFAP299

Cilia and flagella associated protein 299 Q6V702 CF299_HUMAN
Protein Coding Chr 4 4q21.21 Swiss-Prot reviewed Entrez 255119
Mutations
402
CL 48 · Tissue 349
Samples
202
CL 34 · Tissue 165
Peptides
150
unique mutant peptides
Transcripts
2
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations40248349
Samples20234165
Peptides15024134

Function

CFAP299 · Cilia and flagella associated protein 299

Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

2 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000358105 Q6V702 203 128
ENST00000508675 Q6V702-1 199 125

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q21.21
Entrez ID
Aliases
C4orf22

Recurrent Mutations

All 128 amino-acid changes on canonical ENST00000358105 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in CFAP299 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CFAP299 – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Unknown
0/10 0%
1/29 3%
Melanoma
3/210 1%
43/1899 2%
Endometrial Carcinoma
2/42 5%
5/612 1%
Colorectal Carcinoma
13/143 9%
20/3239 1%
Bladder Carcinoma
0/58 0%
9/956 1%
Other Solid Cancers
0/94 0%
12/1515 1%
Gastric Carcinoma
2/74 3%
10/1809 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Squamous Cell Lung Carcinoma
3/57 5%
2/810 0%
Other Sarcomas
0/69 0%
4/699 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Non-Small Cell Lung Carcinoma
2/304 1%
6/1390 0%
Medulloblastoma
0/0 0%
2/450 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
8/2550 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Head and Neck Carcinoma
1/85 1%
3/1574 0%
Wilms Tumour
0/5 0%
1/474 0%
Non-Cancerous
0/104 0%
2/830 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
4/2534 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Breast Carcinoma
2/144 1%
4/3264 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
Prostate Carcinoma
1/13 8%
2/2105 0%
Neuroblastoma
0/87 0%
2/1331 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%

Mutation Distribution

Where CFAP299 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CFAP299 were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

Mutations

All 402 mutations in CFAP299

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide